A unique connective tissue disorder characterised by the triad of dentinogenesis imperfecta, blue sclerae, and multiple wormian bones has been identified in 20 members of three generations of a large kindred of mixed ancestry in South Africa. The skeletons of affected subjects were moderately osteoporotic but, apart from minimal bowing of the femora and some vertebral flattening in late adulthood, this abnormality produced no untoward sequelae. Bone fragility was present in one young male, while a mother and her daughter had deafness of uncertain relationship with the primary disorder. Dental discolouration and a liability to caries were the only important complications. The condition is best regarded as yet another variety of osteogenesis imperfecta. It is inherited as an autosomal dominant trait with relatively consistent phenotypic expression.
Statistics from Altmetric.com
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.